FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Neonatal Marfan syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137854481
rs137854481 		0.882 0.160 15 48488481 missense variant C/T snv
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0